ClinVar

NM_000546.6(TP53):c.94C>T (p.Leu32=)

Gene:

TP53:tumor protein p53 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7676384 (on Assembly GRCh38)
• Chr17: 7579702 (on Assembly GRCh37)

Preferred name:

NM_000546.6(TP53):c.94C>T (p.Leu32=)

HGVS:

• NC_000017.11:g.7676384G>A
• NG_017013.2:g.16167C>T
• NM_000546.6:c.94C>TMANE SELECT
• NM_001126112.3:c.94C>T
• NM_001126113.3:c.94C>T
• NM_001126114.3:c.94C>T
• NM_001126118.2:c.-24C>T
• NM_001276695.3:c.-24C>T
• NM_001276696.3:c.-24C>T
• NM_001276760.3:c.-24C>T
• NM_001276761.3:c.-24C>T
• NP_000537.3:p.Leu32=
• NP_001119584.1:p.Leu32=
• NP_001119585.1:p.Leu32=
• NP_001119586.1:p.Leu32=
• LRG_321:g.16167C>T
• NC_000017.10:g.7579702G>A
• NM_000546.4:c.94C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1555526920

NCBI 1000 Genomes Browser:

rs1555526920

Molecular consequence:

• NM_001126118.2:c.-24C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001276695.3:c.-24C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001276696.3:c.-24C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001276760.3:c.-24C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001276761.3:c.-24C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000546.6:c.94C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126112.3:c.94C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126113.3:c.94C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001126114.3:c.94C>T - synonymous variant - [Sequence Ontology: SO:0001819]